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SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation.
Calvo-Garrido J, Maffezzini C, Schober FA, Clemente P, Uhlin E, Kele M, Stranneheim H, Lesko N, Bruhn H, Svenningsson P, Falk A, Wedell A, Freyer C, Wredenberg A. Calvo-Garrido J, et al. Among authors: svenningsson p. Stem Cell Reports. 2019 Apr 9;12(4):696-711. doi: 10.1016/j.stemcr.2019.01.023. Epub 2019 Feb 28. Stem Cell Reports. 2019. PMID: 30827875 Free PMC article.
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Haack TB, Ignatius E, Calvo-Garrido J, Iuso A, Isohanni P, Maffezzini C, Lönnqvist T, Suomalainen A, Gorza M, Kremer LS, Graf E, Hartig M, Berutti R, Paucar M, Svenningsson P, Stranneheim H, Brandberg G, Wedell A, Kurian MA, Hayflick SA, Venco P, Tiranti V, Strom TM, Dichgans M, Horvath R, Holinski-Feder E, Freyer C, Meitinger T, Prokisch H, Senderek J, Wredenberg A, Carroll CJ, Klopstock T. Haack TB, et al. Among authors: svenningsson p. Am J Hum Genet. 2016 Sep 1;99(3):735-743. doi: 10.1016/j.ajhg.2016.06.026. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545679 Free PMC article.
Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations.
Paucar M, Pajak A, Freyer C, Bergendal Å, Döry M, Laffita-Mesa JM, Stranneheim H, Lagerstedt-Robinson K, Savitcheva I, Walker RH, Wedell A, Wredenberg A, Svenningsson P. Paucar M, et al. Among authors: svenningsson p. Neurology. 2018 Oct 9;91(15):710-712. doi: 10.1212/WNL.0000000000006320. Epub 2018 Sep 14. Neurology. 2018. PMID: 30217939 Free PMC article. No abstract available.
Single-cell transcriptomics reveals correct developmental dynamics and high-quality midbrain cell types by improved hESC differentiation.
Nishimura K, Yang S, Lee KW, Ásgrímsdóttir ES, Nikouei K, Paslawski W, Gnodde S, Lyu G, Hu L, Saltó C, Svenningsson P, Hjerling-Leffler J, Linnarsson S, Arenas E. Nishimura K, et al. Among authors: svenningsson p. Stem Cell Reports. 2023 Jan 10;18(1):337-353. doi: 10.1016/j.stemcr.2022.10.016. Epub 2022 Nov 17. Stem Cell Reports. 2023. PMID: 36400027 Free PMC article.
PARKIN is not required to sustain OXPHOS function in adult mammalian tissues.
Filograna R, Gerlach J, Choi HN, Rigoni G, Barbaro M, Oscarson M, Lee S, Tiklova K, Ringnér M, Koolmeister C, Wibom R, Riggare S, Nennesmo I, Perlmann T, Wredenberg A, Wedell A, Motori E, Svenningsson P, Larsson NG. Filograna R, et al. Among authors: svenningsson p. NPJ Parkinsons Dis. 2024 Apr 29;10(1):93. doi: 10.1038/s41531-024-00707-0. NPJ Parkinsons Dis. 2024. PMID: 38684669 Free PMC article.
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.
Chen Z, Alvarez Jerez P, Anderson C, Paucar M, Lee J, Nilsson D, Macpherson H, Scardamaglia A, Montgomery K, Hardy J, Singleton AB, Tucci A, Mathews KD, Fu YH, Engvall M, Laffita-Mesa J, Nennesmo I, Wedell A, Ptáček LJ, Blauwendraat C, Gustavsson EK, Svenningsson P, Ryten M, Houlden H. Chen Z, et al. Among authors: svenningsson p. Mov Disord. 2024 Dec 5. doi: 10.1002/mds.30077. Online ahead of print. Mov Disord. 2024. PMID: 39635987
457 results